Primary Amenorrhea

Primary Amenorrhea


Introduction 

  • Amenorrhea means the absence of menstruation.
  • Primary amenorrhea is defined as the condition where a female has not attained menarche by the age of 13 years in the absence of development of secondary sexual characteristics or no menarche by the age of 15 years regardless of the presence of normal growth and development of secondary sexual characteristics.
  • The basic requirement for a female to menstruate normally.
  1. An intact outflow tract that connects the uterine cavity with outside and a normally developed uterus with its endometrium lining.
  2. Proper quantity and sequence of steroid hormones i.e. estrogen and progesterone which in turn originate from the ovary.
  3. The maturation of follicular apparatus is guided by gonadotropins- FSH and LH (released by the pituitary).
  4. The secretion of these hormones is in turn dependent on gonadotropin-releasing hormone (released by the hypothalamus).

Classification

So, broadly we can classify the causes of amenorrhea into the following compartments.

  1. Compartment I     Disorders of the outflow tract or uterine target organs.
  2. Compartment II    Disorders of the Ovary
  3. Compartment III   Disorders of the Pituitary
  4. Compartment IV   Disorders of the CNS (hypothalamic) factors.

Etiology

Compartment I (Disorders of outflow tract uterus)
  • Mullerian Anomalies

(2nd M/c cause of primary amenorrhea)

  • Androgen insensitivity syndrome

(Testicular feminization syndrome)

Compartment II (Disorders of Ovary)
  • Gonadal dysgenesis

(M/c cause of Primary Amenorrhea)

  • Turners syndrome: 45XO
  • Pure gonadal dysgenesis: 46 XX
  • Swyers syndrome: 46 XY
  • Savage syndrome: Resistant ovary syndrome
Compartment III (Disorders of Anterior Pituitary)
  • Neoplasia
  • Prolactinomas/Craniopharyngiomas
  • Hypopituitary states – Simmond’s disease/Chiari-Frommel syndrome
  • Forbes Albright syndrome (Not very important)
Compartment IV (Disorders of CNS)
  • Kallmann syndrome (Amenorrhea + Anosmia)

 

 Diagnosis:

  • Buccal smear and an examination of the polymorphonuclear leucocytes to determine if chromatin positive (probably XX) or chromatin negative (probably XO or XY); in other cases, full chromosome analysis may be needed to exclude mosaicism and AIS.
  • Hormonal investigations should include LH, FSH, oestradiol and testosterone levels.
  • Ultrasound will help determine the presence, state, and size of the ovaries and any follicular activity. Uterine size can also be seen.
  • It is rarely necessary to perform a laparoscopy to assess the pelvic organs. 

 

Management 

Case 1: A 12 to 15 year female with normal secondary sexual characteristics complains of primary amenorrhea.

  1. If the uterus is present and the diagnosis is of cryptomenorrhea i.e. imperforate hymen perform incision on hymen.
  2. If the uterus is absent, it could be due to Mullerian agenesis or testicular feminizing syndrome. In such cases management will be :
  • Let them be females.
  • Gonadectomy once breasts are fully formed & puberty (16-18) attained.
  • Vaginoplasty just before or after marriage.
  • Hormonal therapy i.e. estrogen therapy.

 

Case 2: A 12-15 years female with absent secondary sexual characteristics (i.e breast) C/O Primary amenorrhea.

  1. In all such cases, the first thing to note is the height of the patient.
  2. If the height is short then it could be due to Turner syndrome & the management will be Hormonal therapy. Initially the only estrogen for breast Development followed by estrogen and progesterone to prevent endometrial cancer for increasing height growth hormone.
  3. If the height is normal then it could be either due to Kallmann syndrome (m/c) or swyer syndrome & the treatment of choice will be Pulsatile GnRH.

Exam Important

  • The commonest cause of primary Amenorrhoea is Ovarian dysgenesis.
  • Mullerian Anomalies is the 2nd M/c cause of primary amenorrhea.
  • Primary amenorrhoea with anosmia is seen in Kallman syndrome
  • Child with primary amenorrhoea with negative progesterone challenge test but positive com­bined progesterone and estrogen test. Diagnosis may be Prolactinoma.
  • Primary amenorrhoea, grade V thelarche, grade II pubarche, and no axillary hair is seen in testicular feminization.
  • Androgen insensitivity syndrome: Primary amenorrhoea normal sexual development and normal breast but with absent public and axillary hair. B/L inguinal hernias, absent uterus & blind vagina.
  • PCOS, Müllerian agenesis & Congenital adrenal hyperplasia are the cause of primary amenorrhoea with eugonadism.
  • Primary amenorrhoea with normal breasts, hirsutism, and acne are features of PCOS.
  • Primary amenorrhoea with well-developed breasts and axillary and pubic hair & missing Uterus and vagina is diagnosed to have Mullerian agenesis.
  • Well-developed breasts, no hirsutism, no pubic or axillary hair with primary amenorrhea is suggestive of Complete androgen insensitivity syndrome.
  • A 10-year-old girl with primary amenorrhoea, absent breasts, the malformed uterus is diagnosed with Turner’s syndrome.
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